Iyer Narayan P, Tucker David F, Roberts Selwyn H, Moselhi Marsham, Morgan Margery, Matthes Jean W
Department of Pediatrics, Singleton Hospital, Swansea, UK.
J Matern Fetal Neonatal Med. 2012 Jan;25(1):68-73. doi: 10.3109/14767058.2011.564688. Epub 2011 Apr 4.
To describe the characteristics and outcome of fetuses with Turner syndrome reported to a national congenital anomalies register.
All cases with a diagnosis of Turner syndrome reported to Congenital Anomaly Register and Information Service for Wales (CARIS) between 1 January 1998 and 31 December 2007 were included. The cases were grouped in five categories based on their outcomes: fetal loss (FL), termination of pregnancy (TOP), live birth (LB), and postnatal (PN) detection and comparison was undertaken between the groups.
One hundred twenty-four cases were reported during the study period. The prevalence of Turner syndrome was 1 in 4901 live female births. Seventy-four percent had 45 X karyotype while the rest had some form of Mosaic Turner karyotype. Pregnancy was terminated in 66% of antenatally diagnosed cases. FL and TOP groups had 92% and 87%, respectively, of 45 X karyotype - far greater than in the LB and PN groups. Increased nuchal thickness was the commonest anomaly noted in antenatal ultrasound and was a predictor for 45 X karyotype, FL, and termination.
Termination was the most common outcome of fetuses diagnosed antenatally with Turner syndrome. This has modified the natural history of Turner syndrome particularly in cases with Mosaic karyotype.
描述向国家先天性异常登记处报告的特纳综合征胎儿的特征及结局。
纳入1998年1月1日至2007年12月31日期间向威尔士先天性异常登记与信息服务处（CARIS）报告的所有诊断为特纳综合征的病例。根据结局将病例分为五类：胎儿丢失（FL）、终止妊娠（TOP）、活产（LB）和产后（PN）检测，并对各组进行比较。
研究期间报告了124例病例。特纳综合征在每4901例活产女婴中的患病率为1例。74%的病例核型为45,X，其余病例为某种形式的嵌合型特纳核型。66%的产前诊断病例终止妊娠。FL组和TOP组分别有92%和87%的病例核型为45,X，远高于LB组和PN组。颈项透明层厚度增加是产前超声检查中最常见的异常，是45,X核型、FL和终止妊娠的一个预测指标。
终止妊娠是产前诊断为特纳综合征胎儿最常见的结局。这改变了特纳综合征的自然病程，尤其是在嵌合核型的病例中。
